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Atrial fibrillation, familial, 9(ATFB9)

MedGen UID:
462781
Concept ID:
C3151431
Disease or Syndrome
Synonyms: ATFB9; KCNJ2-Related Familial Atrial Fibrillation
 
Gene (location): KCNJ2 (17q24.3)
 
Monarch Initiative: MONDO:0013513
OMIM®: 613980

Definition

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. [from OMIM]

Additional description

From MedlinePlus Genetics
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.  https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation

Clinical features

From HPO
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Prolonged QTc interval
MedGen UID:
294666
Concept ID:
C1560305
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
Permanent atrial fibrillation
MedGen UID:
750308
Concept ID:
C2586056
Pathologic Function
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.

Professional guidelines

PubMed

Verma A, Haines DE, Boersma LV, Sood N, Natale A, Marchlinski FE, Calkins H, Sanders P, Packer DL, Kuck KH, Hindricks G, Onal B, Cerkvenik J, Tada H, DeLurgio DB; PULSED AF Investigators
Circulation 2023 May 9;147(19):1422-1432. Epub 2023 Mar 6 doi: 10.1161/CIRCULATIONAHA.123.063988. PMID: 36877118Free PMC Article
Cheung CC, Nattel S, Macle L, Andrade JG
Can J Cardiol 2021 Oct;37(10):1607-1618. Epub 2021 Jun 26 doi: 10.1016/j.cjca.2021.06.011. PMID: 34186113
Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, Himmelfarb CD, Khera A, Lloyd-Jones D, McEvoy JW, Michos ED, Miedema MD, Muñoz D, Smith SC Jr, Virani SS, Williams KA Sr, Yeboah J, Ziaeian B
Circulation 2019 Sep 10;140(11):e563-e595. Epub 2019 Mar 17 doi: 10.1161/CIR.0000000000000677. PMID: 30879339Free PMC Article

Curated

UK NICE Guideline NG196, Atrial fibrillation: diagnosis and management, 2021

Recent clinical studies

Etiology

Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Andrade JG, Wazni OM, Kuniss M, Hawkins NM, Deyell MW, Chierchia GB, Nissen S, Verma A, Wells GA, Turgeon RD
J Am Coll Cardiol 2021 Aug 31;78(9):914-930. doi: 10.1016/j.jacc.2021.06.038. PMID: 34446164
Andrade JG, Champagne J, Dubuc M, Deyell MW, Verma A, Macle L, Leong-Sit P, Novak P, Badra-Verdu M, Sapp J, Mangat I, Khoo C, Steinberg C, Bennett MT, Tang ASL, Khairy P; CIRCA-DOSE Study Investigators
Circulation 2019 Nov 26;140(22):1779-1788. Epub 2019 Oct 21 doi: 10.1161/CIRCULATIONAHA.119.042622. PMID: 31630538
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article
Andrade J, Khairy P, Dobrev D, Nattel S
Circ Res 2014 Apr 25;114(9):1453-68. doi: 10.1161/CIRCRESAHA.114.303211. PMID: 24763464

Diagnosis

Lip GYH, Proietti M, Potpara T, Mansour M, Savelieva I, Tse HF, Goette A, Camm AJ, Blomstrom-Lundqvist C, Gupta D, Boriani G
Europace 2023 Aug 2;25(9) doi: 10.1093/europace/euad226. PMID: 37622590Free PMC Article
Erol Ç
Anatol J Cardiol 2022 Sep;26(9):672. doi: 10.5152/AnatolJCardiol.2022.9. PMID: 36044057Free PMC Article
Andrade JG, Wazni OM, Kuniss M, Hawkins NM, Deyell MW, Chierchia GB, Nissen S, Verma A, Wells GA, Turgeon RD
J Am Coll Cardiol 2021 Aug 31;78(9):914-930. doi: 10.1016/j.jacc.2021.06.038. PMID: 34446164
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article
Andrade J, Khairy P, Dobrev D, Nattel S
Circ Res 2014 Apr 25;114(9):1453-68. doi: 10.1161/CIRCRESAHA.114.303211. PMID: 24763464

Therapy

Al-Kaisey AM, Parameswaran R, Bryant C, Anderson RD, Hawson J, Chieng D, Segan L, Voskoboinik A, Sugumar H, Wong GR, Finch S, Joseph SA, McLellan A, Ling LH, Morton J, Sparks P, Sanders P, Lee G, Kistler PM, Kalman JM
JAMA 2023 Sep 12;330(10):925-933. doi: 10.1001/jama.2023.14685. PMID: 37698564Free PMC Article
Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Marrouche NF, Wazni O, McGann C, Greene T, Dean JM, Dagher L, Kholmovski E, Mansour M, Marchlinski F, Wilber D, Hindricks G, Mahnkopf C, Wells D, Jais P, Sanders P, Brachmann J, Bax JJ, Morrison-de Boer L, Deneke T, Calkins H, Sohns C, Akoum N; DECAAF II Investigators
JAMA 2022 Jun 21;327(23):2296-2305. doi: 10.1001/jama.2022.8831. PMID: 35727277Free PMC Article
Packer DL, Mark DB, Robb RA, Monahan KH, Bahnson TD, Poole JE, Noseworthy PA, Rosenberg YD, Jeffries N, Mitchell LB, Flaker GC, Pokushalov E, Romanov A, Bunch TJ, Noelker G, Ardashev A, Revishvili A, Wilber DJ, Cappato R, Kuck KH, Hindricks G, Davies DW, Kowey PR, Naccarelli GV, Reiffel JA, Piccini JP, Silverstein AP, Al-Khalidi HR, Lee KL; CABANA Investigators
JAMA 2019 Apr 2;321(13):1261-1274. doi: 10.1001/jama.2019.0693. PMID: 30874766Free PMC Article
Nazha B, Spyropoulos AC
J Hosp Med 2016 Sep;11(9):652-7. Epub 2016 Apr 21 doi: 10.1002/jhm.2594. PMID: 27098835

Prognosis

Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM
Circulation 2021 Dec 14;144(24):1899-1911. Epub 2021 Sep 30 doi: 10.1161/CIRCULATIONAHA.121.056456. PMID: 34587750Free PMC Article
Elliott AD, Linz D, Verdicchio CV, Sanders P
Heart Lung Circ 2018 Sep;27(9):1078-1085. Epub 2018 May 8 doi: 10.1016/j.hlc.2018.04.296. PMID: 29891251
Raju H, Kalman JM
Heart Lung Circ 2018 Sep;27(9):1086-1092. Epub 2018 May 8 doi: 10.1016/j.hlc.2018.04.295. PMID: 29861323
Vaidya K, Semsarian C, Chan KH
Heart Lung Circ 2017 Sep;26(9):975-982. Epub 2017 May 23 doi: 10.1016/j.hlc.2017.05.116. PMID: 28602671
Lip GY, Nieuwlaat R, Pisters R, Lane DA, Crijns HJ
Chest 2010 Feb;137(2):263-72. Epub 2009 Sep 17 doi: 10.1378/chest.09-1584. PMID: 19762550

Clinical prediction guides

Bisson A, Fawzy AM, El-Bouri W, Angoulvant D, Lip GYH, Fauchier L, Clementy N
Curr Probl Cardiol 2023 Aug;48(8):101732. Epub 2023 Mar 31 doi: 10.1016/j.cpcardiol.2023.101732. PMID: 37003451
Kwak S, Lim J, Yang S, Rhee TM, Choi YJ, Lee HJ, Hwang IC, Lee H, Yoon YE, Park HE, Lee SP, Kim HK, Choi SY, Kim YJ, Cho GY, Park JB
JACC Cardiovasc Imaging 2023 May;16(5):575-587. Epub 2023 Jan 11 doi: 10.1016/j.jcmg.2022.11.014. PMID: 36669928
Attia ZI, Noseworthy PA, Lopez-Jimenez F, Asirvatham SJ, Deshmukh AJ, Gersh BJ, Carter RE, Yao X, Rabinstein AA, Erickson BJ, Kapa S, Friedman PA
Lancet 2019 Sep 7;394(10201):861-867. Epub 2019 Aug 1 doi: 10.1016/S0140-6736(19)31721-0. PMID: 31378392
Kotecha D, Mohamed M, Shantsila E, Popescu BA, Steeds RP
Europace 2017 Sep 1;19(9):1427-1438. doi: 10.1093/europace/eux027. PMID: 28387802Free PMC Article
Calenda BW, Fuster V, Halperin JL, Granger CB
Nat Rev Cardiol 2016 Sep;13(9):549-59. Epub 2016 Jul 7 doi: 10.1038/nrcardio.2016.106. PMID: 27383079

Recent systematic reviews

Casula M, Andreis A, Avondo S, Vaira MP, Imazio M
Future Cardiol 2022 Aug;18(8):647-659. Epub 2022 Jul 5 doi: 10.2217/fca-2020-0206. PMID: 35787150
Gencer B, Djousse L, Al-Ramady OT, Cook NR, Manson JE, Albert CM
Circulation 2021 Dec 21;144(25):1981-1990. Epub 2021 Oct 6 doi: 10.1161/CIRCULATIONAHA.121.055654. PMID: 34612056Free PMC Article
Al-Arkee S, Mason J, Lane DA, Fabritz L, Chua W, Haque MS, Jalal Z
J Med Internet Res 2021 May 25;23(5):e24190. doi: 10.2196/24190. PMID: 34032583Free PMC Article
Baumgartner C, da Costa BR, Collet TH, Feller M, Floriani C, Bauer DC, Cappola AR, Heckbert SR, Ceresini G, Gussekloo J, den Elzen WPJ, Peeters RP, Luben R, Völzke H, Dörr M, Walsh JP, Bremner A, Iacoviello M, Macfarlane P, Heeringa J, Stott DJ, Westendorp RGJ, Khaw KT, Magnani JW, Aujesky D, Rodondi N; Thyroid Studies Collaboration
Circulation 2017 Nov 28;136(22):2100-2116. Epub 2017 Oct 23 doi: 10.1161/CIRCULATIONAHA.117.028753. PMID: 29061566Free PMC Article
Risom SS, Zwisler AD, Johansen PP, Sibilitz KL, Lindschou J, Gluud C, Taylor RS, Svendsen JH, Berg SK
Cochrane Database Syst Rev 2017 Feb 9;2(2):CD011197. doi: 10.1002/14651858.CD011197.pub2. PMID: 28181684Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG196, Atrial fibrillation: diagnosis and management, 2021

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